N83S (p.Asn83Ser) variant of TNNT2 (Troponin T, cardiac muscle)
N83S (p.Asn83Ser) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; Hypertrophic cardiomyopathy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and published literature.
N83S (p.Asn83Ser) variant details
- p.Asn83Ser
- rs397516450
- ClinGen CA088088
- ClinVar RCV000036562
- ClinVar RCV000553495
- Conflicting interpretations
- Cardiovascular phenotype; not specified; Hypertrophic cardiomyopathy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- CADD 23.10
- PolyPhen-2 0.57
- SIFT 0.25
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; Hypertrophic cardiomyop)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)